A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv74n64



Internal ID22780983
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:23493376..23531932hg38UCSC Ensembl
chrX:23511493..23550049hg19UCSC Ensembl
chrX:23421414..23459970hg18UCSC Ensembl
chrX:23271150..23309706hg17UCSC Ensembl
CytobandXp22.11
Allele length
AssemblyAllele length
hg3838557
hg1938557
hg1838557
hg1738557
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv818016, nsv818018
SamplesNA11882, NA10859
Known Genes
MethodSNP array
AnalysisAn integrated HMM algorithm was developed and we constructed accurate models for log R Ratio and B Allele Frequency. We developed more realistic models for state transition between different copy number states. PennCNV incorporates the population allele frequency for each SNP and the distance between adjacent SNPs. We incorporated a Bayesian approach into PennCNV to use family information for a posteriori CNV validation and CNV boundary mapping.
PlatformGPL6433
Comments
ReferenceWang_et_al_2007
Pubmed ID17921354
Accession Number(s)dgv74n64
Frequency
Sample Size112
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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